Varaico: Literature-Extracted Genetic Variants

Gene:SERPINI1
Variant:p.M216I

SERPINI1

183 papers

RefSeq Summary

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type p...

Pfam Domains

Serpinaa 24–397UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family I member 1

HGNC Previous Symbol

PI12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001122752.2
p.M216I
c.648G>A
Surrounding Variants
1 paper
NM_001122752.2
p.M216I
c.648G>C
1 paper
NM_001122752.2
p.M216I
c.648G>T
1 paper
NM_001122752.2
p.E211Q
c.631G>C
1 paper
NM_001122752.2
p.Y225C
c.674A>G
1 paper
NM_001122752.2
p.T201A
c.601A>G
1 paper
NM_001122752.2
p.S192L
c.575C>T
1 paper
NM_001122752.2
p.S192_R195del0
c.574_585del12
1 paper
NM_001122752.2
p.Y185D
c.553T>G
1 paper
NM_001122752.2
p.V184D
c.551T>A
1 paper
NM_001122752.2
p.L180L
c.540C>G
1 paper
NM_001122752.2
p.Y177N
c.529T>A
1 paper
NM_001122752.2
p.R170R
c.510G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."